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Adamts13 Gene Detail
Summary
  • Symbol
    Adamts13
  • Name
    a disintegrin-like and metallopeptidase (reprolysin type) with thrombospondin type 1 motif, 13
  • Synonyms
    LOC279028, vWF-CP mRNA for von Willebrand factor-cleaving
  • Feature Type
    protein coding gene
  • IDs
    MGI:2685556
    NCBI Gene: 279028
  • Gene Overview
    MyGene.info: ADAMTS13
  • Alliance
  • Transcription Start Sites
    3 TSS
Location &
Maps
more
  • Sequence Map
    Chr2:26973416-27009628 bp, + strand
  • From NCBI annotation of GRCm38

    View this region in JBrowse

  • Genome Browsers
  • Genetic Map
    Chromosome 2, 19.14 cM
  • Mapping Data
    2 experiments
Strain
Comparison
more
  • SNPs within 2kb
    323 from dbSNP Build 142
  • Strain Annotations
    18
For selected strains:
Strain Gene Model ID Feature Type Coordinates Select Strains
C57BL/6J MGI_C57BL6J_2685556
protein coding gene Chr2:26973416-27009628 (.)
129S1/SvImJ MGP_129S1SvImJ_G0025505
protein coding gene Chr2:24948281-24980190 (+)
A/J MGP_AJ_G0025482
protein coding gene Chr2:24001818-24033480 (+)
AKR/J MGP_AKRJ_G0025452
protein coding gene Chr2:24790994-24826578 (+)
BALB/cJ MGP_BALBcJ_G0025478
protein coding gene Chr2:24119947-24153659 (+)
C3H/HeJ MGP_C3HHeJ_G0025239
protein coding gene Chr2:24728995-24761192 (+)
C57BL/6NJ MGP_C57BL6NJ_G0025922
protein coding gene Chr2:25792938-25830001 (+)
CAROLI/EiJ MGP_CAROLIEiJ_G0023333
protein coding gene Chr2:22839449-22869125 (+)
CAST/EiJ MGP_CASTEiJ_G0024702
protein coding gene Chr2:24606655-24636802 (+)
CBA/J MGP_CBAJ_G0025217
protein coding gene Chr2:26693435-26723718 (+)
DBA/2J MGP_DBA2J_G0025350
protein coding gene Chr2:23822393-23853285 (+)
FVB/NJ MGP_FVBNJ_G0025312
protein coding gene Chr2:23575692-23610257 (+)
LP/J MGP_LPJ_G0025436
protein coding gene Chr2:24894100-24925633 (+)
NOD/ShiLtJ MGP_NODShiLtJ_G0025343
protein coding gene Chr2:26742833-26772797 (+)
NZO/HlLtJ MGP_NZOHlLtJ_G0025981
protein coding gene Chr2:24726717-24763733 (+)
PWK/PhJ MGP_PWKPhJ_G0024450
protein coding gene Chr2:23613283-23644385 (+)
SPRET/EiJ MGP_SPRETEiJ_G0024250
protein coding gene Chr2:24874329-24908739 (+)
WSB/EiJ MGP_WSBEiJ_G0024771
protein coding gene Chr2:24846362-24877440 (+)



Homology
more
  • Human Ortholog
    ADAMTS13, ADAM metallopeptidase with thrombospondin type 1 motif 13
  • Vertebrate Orthologs
    9
  • Human Ortholog
    ADAMTS13, ADAM metallopeptidase with thrombospondin type 1 motif 13
    Orthology source: HomoloGene, HGNC
  • Synonyms
    ADAM-TS13, ADAMTS-13, C9orf8, vWF-CP, VWFCP
  • Links
    NCBI Gene ID: 11093
    neXtProt AC: NX_Q76LX8
    UniProt: Q76LX8

  • Chr Location
    9q34.2; chr9:133414339-133459403 (+)  GRCh38.p7

Human Diseases
more
  • Diseases
    1 with human ADAMTS13 associations

Human Disease Mouse Models
      
IDs
Click on a disease name to see all genes associated with that disease.

Mutations,
Alleles, and
Phenotypes
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  • Phenotype Summary
    15 phenotypes from 5 alleles in 7 genetic backgrounds
    6 phenotypes from multigenic genotypes
    39 phenotype references
Phenotype Overview

adipose tissue
behavior/neurological
cardiovascular system
cellular
craniofacial
digestive/alimentary system
embryo
endocrine/exocrine glands
growth/size/body
hearing/vestibular/ear
hematopoietic system
homeostasis/metabolism
immune system
integument
limbs/digits/tail
liver/biliary system
mortality/aging
muscle
neoplasm
nervous system
pigmentation
renal/urinary system
reproductive system
respiratory system
skeleton
taste/olfaction
vision/eye

Click cells to view annotations.
Homozygous mutation of this gene results in thrombocytopenia, decreased survival, and increased susceptibility to developing thrombotic thrombocytopenic purpura after shiga toxin injection. On a different background, mutants are viable and fertile.
Gene Ontology
(GO)
Classifications
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  • All GO Annotations
  • GO References
Molecular Function

carbohydrate derivative binding
cytoskeletal protein binding
DNA binding
enzyme regulator
hydrolase
ligase
lipid binding
oxidoreductase
RNA binding
signaling receptor activity
signaling receptor binding
transcription
transferase
transporter
Biological Process

carbohydrate derivative metabolism
cell death
cell differentiation
cell proliferation
cellular component organization
establishment of localization
homeostatic process
immune system process
lipid metabolic process
nucleic acid-templated transcription
protein metabolic process
response to stimulus
signaling
system development
Cellular Component

cell projection
cytoplasmic vesicle
cytoskeleton
cytosol
endoplasmic reticulum
endosome
extracellular region
Golgi apparatus
mitochondrion
non-membrane-bounded organelle
nucleus
organelle envelope
organelle lumen
plasma membrane
synapse
vacuole
Click cells to view annotations.
Expression
less
  • Assay Results
  • Tissues
  • cDNA Data
  • Literature Summary
  • Comparison Matrix
  • Interactions
    less
    Sequences &
    Gene Models
    less
    Representative SequencesLengthStrain/SpeciesFlank
    genomic 279028 NCBI Gene Model | MGI Sequence Detail 36213 C57BL/6J ±  kb
    transcript NM_001001322 RefSeq | MGI Sequence Detail 4580 129/Sv  
    polypeptide Q769J6 UniProt | EBI | MGI Sequence Detail 1426 Not Applicable  
    For the selected sequence
    Protein
    Information
    less
    Molecular
    Reagents
    less
    • All nucleic 4
      cDNA 3
      Primer pair 1

      Microarray probesets 1
    References
    more
    • Summaries
      All 65
      Developmental Gene Expression 1
      Gene Ontology 6
      Phenotypes 39
    • Earliest
      J:86696 Zambrowicz BP, et al., Wnk1 kinase deficiency lowers blood pressure in mice: a gene-trap screen to identify potential targets for therapeutic intervention. Proc Natl Acad Sci U S A. 2003 Nov 25;100(24):14109-14
    • Latest
      J:263674 Verhenne S, et al., Long-Term Prevention of Congenital Thrombotic Thrombocytopenic Purpura in ADAMTS13 Knockout Mice by Sleeping Beauty Transposon-Mediated Gene Therapy. Arterioscler Thromb Vasc Biol. 2017 May;37(5):836-844

    Contributing Projects:
    Mouse Genome Database (MGD), Gene Expression Database (GXD), Mouse Tumor Biology (MTB), Gene Ontology (GO), MouseCyc
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    last database update
    11/06/2018
    MGI 6.13
    The Jackson Laboratory